A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15944340



Internal ID19669594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:135365374..135760462hg38UCSC Ensembl
chrX:134499299..134929000hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38395089
hg19429702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4516714
Supporting Variants
Samples
Known GenesCT45A1, CT45A2, CT45A3, CT45A4, DDX26B, LINC00086, LOC100506790
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15944340
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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